Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: APC: R259Q; rs767457050

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Correlation between early dynamics in circulating tumour DNA and outcome from FOLFIRI treatment in metastatic colorectal cancer.

Scientific Reports

Lyskjær, Iben I; Kronborg, Camilla Skovhus CS; Rasmussen, Mads Heilskov MH; Sørensen, Boe Sandahl BS; Demuth, Christina C; Rosenkilde, Mona M; Johansen, Amanda Frydendahl Boll AFB; Knudsen, Michael M; Vang, Søren S; Krag, Søren Rasmus Palmelund SRP; Spindler, Karen-Lise Garm KG; Andersen, Claus Lindbjerg CL

Publication Date: 2019-08-08

Variant appearance in text: APC: Arg259Gln

PubMed Link: 31395942

Variant Present in the following documents:

• 41598_2019_47708_MOESM2_ESM.xlsx, sheet 6

View BVdb publication page

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Acquired resistance to immunotherapy in MMR-D pancreatic cancer.

Journal For Immunotherapy Of Cancer

Hu, Zishuo Ian ZI; Hellmann, Matthew D MD; Wolchok, Jedd D JD; Vyas, Monika M; Shia, Jinru J; Stadler, Zsofia K ZK; Diaz, Luis A LA; O'Reilly, Eileen M EM

Publication Date: 2018-11-20

Variant appearance in text: APC: R259Q

PubMed Link: 30458888

Variant Present in the following documents:

• Main text
• 40425_2018_Article_448.pdf

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: rs767457050

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 2

View BVdb publication page

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Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget

Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P

Publication Date: 2017-12-08

Variant appearance in text: APC: R259Q

PubMed Link: 29296220

Variant Present in the following documents:

• oncotarget-08-108020-s006.xlsx, sheet 1

View BVdb publication page

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Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget

Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-11-21

Variant appearance in text: APC: R259Q

PubMed Link: 29245953

Variant Present in the following documents:

• oncotarget-08-99966-s003.xlsx, sheet 3

View BVdb publication page

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